Purpose: To analyze the clinical characteristics of renal cell carcinoma (RCC) in Korean patients with von Hippel-Lindau (VHL) disease. Materials and Methods: The clinical characteristics of 21 patients who were diagnosed with VHL disease were analyzed. In patients with RCC related to VHL disease, the clinical characteristics of the tumor, type of pathology and survival were investigated. Results: There were 1,396 patients diagnosed with RCC during the same period. A total of 21 patients were diagnosed with VHL disease. Among the 21 patients with VHL disease, 6 (28.6%) patients had retinal angioma, 18 (85.7%) had cerebellar hemangioblastoma, 15 had pancreatic lesions, including 13 with a pancreatic cyst and two with a pancreatic mass. The mean age of the patients diagnosed with VHL disease was 39.1±13.5 years and for those that were diagnosed with VHL disease with RCC it was 42.5±11.5 years. Thirteen patients (61.9%) had renal lesions and nine (42.9%) had RCC. Five had bilateral RCC and four had unilateral RCC. The presenting symptoms were gross hematuria and flank pain in two patients. The treatment of the RCC included radical nephrectomy in two, radical nephrectomy and target therapy in one, partial nephrectomy in two, IL-2 immunotherapy in one, and target therapy in one. Two were observed without treatment because of severe complications of a cerebellar hemangioblastoma. The pathology of the seven patients that had surgery or a biopsy was that of the conventional type RCC. The survival of the patients with VHL with and without RCC was not significantly different. Conclusions: The incidence of RCC in patients with VHL disease was 42.9%, and the incidence of VHL disease in RCC patients was 0.64% in Korea. However, VHL disease in Korea is rare; further extended multi-institutional studies are needed to determine the characteristics of VHL disease in Korea.
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